Variant report

Variant	rs8176446
Chromosome Location	chr2:188362613-188362614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:188362611-188362927	H1-hESC	embryonic stem cell:	n/a	chr2:188362786-188362799 chr2:188362783-188362802
2	CTCF	chr2:188362456-188363097	HCT-116	colon:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
3	CTCF	chr2:188362377-188362999	SK-N-SH	brain:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
4	ZNF274	chr2:188362475-188363776	K562	blood:	n/a	n/a
5	CTCF	chr2:188362580-188362730	HAc	cerebellar:	n/a	n/a
6	RFX5	chr2:188362491-188362671	K562	blood:	n/a	n/a
7	CTCF	chr2:188362613-188362885	H1-hESC	embryonic stem cell:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
8	CTCF	chr2:188362434-188362983	K562	blood:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
9	CTCF	chr2:188362543-188362982	IMR90	lung:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
10	ZNF143	chr2:188362604-188362967	K562	blood:	n/a	n/a
11	RAD21	chr2:188362584-188362899	SK-N-SH_RA	brain:	n/a	chr2:188362786-188362799 chr2:188362783-188362802
12	RAD21	chr2:188362528-188363012	HCT-116	colon:	n/a	chr2:188362786-188362799 chr2:188362783-188362802
13	CTCF	chr2:188362569-188362878	HepG2	liver:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
14	RAD21	chr2:188362535-188363057	HCT-116	colon:	n/a	chr2:188362786-188362799 chr2:188362783-188362802
15	CTCF	chr2:188362607-188362925	Medullo	brain:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
16	RAD21	chr2:188362491-188363066	A549	lung:	n/a	chr2:188362786-188362799 chr2:188362783-188362802
17	RAD21	chr2:188362537-188362985	A549	lung:	n/a	chr2:188362786-188362799 chr2:188362783-188362802
18	CUX1	chr2:188362604-188362874	GM12878	blood:	n/a	n/a
19	CTCF	chr2:188362604-188362851	A549	lung:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
20	CTCF	chr2:188362549-188362985	A549	lung:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
21	CTCF	chr2:188362580-188362730	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr2:188362600-188362750	NHLF	lung:	n/a	n/a
23	CTCF	chr2:188362608-188362882	K562	blood:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
24	CTCF	chr2:188362480-188362630	HUVEC	blood vessel:	n/a	n/a
25	ARID3A	chr2:188362596-188363368	K562	blood:	n/a	n/a
26	CTCF	chr2:188362396-188363411	A549	lung:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
27	CUX1	chr2:188362546-188362940	K562	blood:	n/a	n/a
28	CTCF	chr2:188362576-188362981	GM12878	blood:	n/a	chr2:188362784-188362805 chr2:188362782-188362800
29	ARID3A	chr2:188362488-188362990	HepG2	liver:	n/a	n/a
30	RAD21	chr2:188362572-188362973	HepG2	liver:	n/a	chr2:188362786-188362799 chr2:188362783-188362802

No.	Distal block	Cell Line	Cell type
1	chr2:188362271..188363016-chr2:188446864..188447543,2	MCF-7	breast:
2	chr2:188362272..188363211-chr2:188445966..188446643,3	MCF-7	breast:
3	chr2:188362083..188363643-chr2:188369549..188371149,2	K562	blood:

Variant related genes	Relation type
TFPI	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs73048644	0.85[AFR][1000 genomes]
rs73048659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048662	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048665	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176571	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:188349000-188366600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
5	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:188356600-188365400	Strong transcription	HepG2	liver
7	chr2:188357600-188365400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:188358200-188370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:188358400-188374600	Weak transcription	Fetal Thymus	thymus
10	chr2:188359000-188366800	Weak transcription	Fetal Stomach	stomach
11	chr2:188359200-188375600	Weak transcription	Lung	lung
12	chr2:188359400-188365000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:188359600-188362800	Strong transcription	NHLF	lung
14	chr2:188360000-188362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:188360200-188367400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:188360400-188369000	Weak transcription	Dnd41	blood
17	chr2:188360600-188365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:188360600-188365400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:188360600-188365400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:188360600-188365400	Weak transcription	Hela-S3	cervix
21	chr2:188360600-188365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:188360600-188366400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:188360600-188367000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:188360600-188368600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:188360600-188375600	Weak transcription	HSMMtube	muscle
26	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
27	chr2:188361000-188362800	Strong transcription	NH-A	brain
28	chr2:188361200-188367200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:188361200-188369000	Weak transcription	Fetal Lung	lung
30	chr2:188361400-188365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:188361800-188365000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:188361800-188365000	Weak transcription	NHDF-Ad	bronchial
33	chr2:188361800-188365400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:188361800-188365400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:188361800-188365400	Weak transcription	Fetal Intestine Large	intestine
36	chr2:188362000-188365000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:188362000-188365200	Weak transcription	Osteobl	bone
38	chr2:188362000-188365400	Weak transcription	Placenta	Placenta
39	chr2:188362200-188364000	Weak transcription	A549	lung
40	chr2:188362200-188365000	Weak transcription	HUVEC	blood vessel
41	chr2:188362200-188365200	Weak transcription	Liver	Liver
42	chr2:188362200-188365400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:188362200-188365600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:188362200-188368600	Weak transcription	K562	blood
45	chr2:188362200-188369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:188362400-188363200	Weak transcription	HSMM	muscle
47	chr2:188362400-188365000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:188362600-188362800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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